Product Details

SNP ID

rs145056272

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:149482778 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCAACAACTGGAAAAGATCTCCAC[A/C]TTGGGAATCATTATACATATTGTGA

Phenotype

MIM: 300823

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

IDS PubMed Links

Gene Details

Gene

IDS

Gene Name

iduronate 2-sulfatase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000202.7	1794	Missense Mutation	GGT,TGT	G541C	NP_000193.1
NM_001166550.3	1794	Missense Mutation	GGT,TGT	G451C	NP_001160022.1
NM_006123.4	1794	Intron			NP_006114.1

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